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Huntington's disease as caused by 34 CAG repeats

Huntington's disease as caused by 34 CAG repeats Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5′ part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of rare alleles between 27 and 35 CAG repeats with a higher risk for further expansion in subsequent generations. Here, we report a 75‐year‐old male with clinical features of HD and 34 CAG repeat units. © 2008 Movement Disorder Society http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Movement Disorders Wiley

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References (16)

Publisher
Wiley
Copyright
Copyright © 2008 Movement Disorder Society
ISSN
0885-3185
eISSN
1531-8257
DOI
10.1002/mds.21958
pmid
18307262
Publisher site
See Article on Publisher Site

Abstract

Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5′ part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of rare alleles between 27 and 35 CAG repeats with a higher risk for further expansion in subsequent generations. Here, we report a 75‐year‐old male with clinical features of HD and 34 CAG repeat units. © 2008 Movement Disorder Society

Journal

Movement DisordersWiley

Published: Apr 30, 2008

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